ClinVar Miner

List of variants reported as likely pathogenic by Department of Medical Genetics,Oslo University Hospital

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Total variants: 30
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HGVS dbSNP
NC_000013.10:g.(32944695_32945092)_(32945238_32950806)dup
NC_000017.10:g.(41228632_41234420)_(41234593_41242960)dup
NM_000059.3(BRCA2):c.631+4A>G rs397507841
NM_000059.3(BRCA2):c.7753G>A (p.Gly2585Arg) rs80359002
NM_000059.3(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013
NM_000059.3(BRCA2):c.8177A>G (p.Tyr2726Cys) rs80359064
NM_000059.3(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del) rs80359698
NM_000059.3(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_001278716.2(FBXL4):c.1442T>C (p.Leu481Pro) rs772037717
NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709
NM_002180.2(IGHMBP2):c.2T>C (p.Met1Thr) rs886037759
NM_002180.2(IGHMBP2):c.449+1G>T rs797044802
NM_002180.2(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs) rs746581714
NM_005120.3(MED12):c.1862G>A (p.Arg621Gln) rs1057519381
NM_006563.4(KLF1):c.1001C>G (p.Thr334Arg) rs483352841
NM_006563.4(KLF1):c.1022G>A (p.Cys341Tyr) rs483352839
NM_006563.4(KLF1):c.519_525dup (p.Gly176fs) rs483352838
NM_006563.4(KLF1):c.895C>G (p.His299Asp) rs137852688
NM_006563.4(KLF1):c.913+1G>A rs483352840
NM_007294.3(BRCA1):c.115T>G (p.Cys39Gly) rs80357164
NM_007294.3(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.3(BRCA1):c.213-5T>A rs886038196
NM_007294.3(BRCA1):c.5074+2T>C rs80358089
NM_007294.3(BRCA1):c.5153G>C (p.Trp1718Ser) rs41293461
NM_007294.3(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.3(BRCA1):c.5213G>A (p.Gly1738Glu) rs80357450
NM_007294.3(BRCA1):c.5309G>T (p.Gly1770Val) rs863224765
NM_007294.3(BRCA1):c.5513T>G (p.Val1838Gly) rs80357107
NM_007294.3(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
Single allele

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